Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.
Concolino
D
D
Department of Paediatrics, Faculty of Medicine, University of Reggio Calabria, Ospedale A Pugliese, Catanzaro, Italy.
Cinti
R
R
Ferraro
L
L
Moricca
M T
MT
Strisciuglio
P
P
D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*